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Variant : CV405027 (NM_172362.3(KCNH1):c.1062A>C (p.Lys354Asn)) Homo sapiens

Symbol: CV405027
Name: NM_172362.3(KCNH1):c.1062A>C (p.Lys354Asn)
Condition: not provided [RCV000485367]
Clinical Significance: likely pathogenic
Last Evaluated: 04/12/2016
Review Status: criteria provided, single submitter
Related Genes: KCNH1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_029777.1:g.219076A>C
NC_000001.11:g.210920040T>G
NC_000001.10:g.211093382T>G
NP_758872.1:p.Lys354Asn
NM_172362.3:c.1062A>C
NM_002238.4:c.981A>C
NG_029777.2:g.219076A>C
NM_172362.2:c.1062A>C
NP_002229.1:p.Lys327Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh381210,920,040 - 210,920,040CLINVAR
GRCh371211,093,382 - 211,093,382CLINVAR
Cytogenetic Map11q32.2CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12895138
Created: 2017-05-09
Species: Homo sapiens
Last Modified: 2019-10-15
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.